Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Método para avaliação da conduta visual de lactentes

The purpose of this study is to introduce a method to evaluate visual functions in infants in the first three months of life. An adaptation of the Guide for the Assessment of Visual Ability in Infants (Gagliardo, 1997) was used. The instrument was a ring with string. It was implemented a pilot study with 33 infants, selected according to the following criteria: neonates well enough to go home within two days of birth; 1 to 3 months of chronological age; monthly evaluation with no absence; subjects living in Campinas/SP metropolitan area. In the first month we observed: visual fixation (93,9%); eye contact (90,9%); horizontal tracking (72,7%); inspects surroundings (97,0%). In the third month, we observed: inspects own hands (42,4%) and increased movements of arms (36,4%). This method allowed the evaluation of visual functions in infants, according to the chronological age. Alterations in this function will facilitate immediate referral to medical services for diagnoses.

Governamentalidade democrática e ensino de Filosofia no Brasil contemporâneo

This article takes the concepts of biopower and governmentality as the starting point for an analysis of certain recent Brazilian government documents about the introduction of Philosophy as a subject in secondary school. In the 1980s, this argument centered on Philosophy's so-called criticism and its potential for preparing citizens for a democratic society, was used by the movements aimed to restore democracy in Brazil. This argument appears to have been assimilated by the Brazilian government, because it is stated in the Guidelines and Bases of Education Law, secondary school students should demonstrate knowledge of philosophy necessary for the exercise of citizenship. The argument also appears in documents such as the PCN and PCN+ (National Curricular Parameters) and OCEM (Curriculum Guidelines for Secondary School) in their chapters on Philosophy. These documents are examined here in the light of governmentality, making explicit how Philosophy is equipped to train young people according to what is understood as a modern democratic society.

Tradução para a língua portuguesa e adaptação cultural do questionário Rowe modificado para atletas arremessadores

OBJECTIVE: Study was to translate and culturally adapt the modified Rowe score for overhead athletes. METHODS: The translation and cultural adaptation process initially involved the stages of transla tion, synthesis, back-translation, and revision by the Translation Group. It was than created the pre-final version of the question naire, being the areas function and pain applied to 20 athletes that perform overhead movements and that suffered SLAP lesions in the dominant shoulder and the areas active compression test and anterior apprehension test and motion were applied to 15 health professionals. RESULTS: During the translation process there were made little modifications in the questionnaire in order to adapt it to Brazilian culture, without changing the semantics and the idiomatic concept originally described. CONCLUSIONS: The questionnaire was easily understood by the subjects of the study, being possible to obtain the Brazilian version of the modified Rowe score for over head athletes that underwent surgical treatment of the SLAP lesion.

O comportamento de crianças durante atendimento odontológico

This research intended to investigate the use of diazepam in conjunction with behavioral strategies to manage uncooperative behavior of child dental patients. The 6 participants received dental treatment during 9 sessions. Using a double-blind design, children received placebo or diazepam and at the same time were submitted to behavior management produces (distraction, explanation, reinforcement and set rule and limits). All sessions were recorded in video-tapes biped in 15 seconds intervals, in which observers recorded child's (crying, body and/or head movements, escape and avoidance) and dentist's behavior. The results indicated that diazepam, considering the used dose, was only effective with one subject. The other participants didn't permit the treatment and showed an increase in their resistance. The behavioral preparation strategies for dental treatment should have been more precisely planned in order to help the child to face the real dental treatment conditions mainly in the first sessions avoiding to reinforce inappropriate behaviors.

Movimento humano em uma perspectiva psicossomática: estudos de Judith Kestenberg

This paper considers Judith Kestenberg's approach to the psychic contextualization of human body movements, presenting: 1) the main movement categories identified by Kestenberg and their meanings; 2) the relations (affinities and shocks) within these movement patterns; 3) the relations between the initial preferences of a child for certain rhythms of movements and his/her movement patterns in adult life. The aim of this research was to present Kestenberg's studies, which offer a necessary knowledge to those willing to comprehend human body movement in a therapeutic context.

Movimentos sociais na contemporaneidade

The work aims to present an overview of social movements in actuality, in the Latin America, and presents a mapping of their main forms in Brazil. The search ponders the educational character of their actions, both for its participants, as for society in general and public agencies. The basic premise of assertion that social movements are sources of innovation and knowledge-generating arrays. However, because it is not an isolated process but social-political character, the paper search joints in the network of relationships that establish movements in political, economic and socio-cultural country, to understand the factors that generate learning built and values of political culture that are being built. . The text highlights movements that occurs in the areas of education - formal and non-formal education.

O comportamento de crianças em tratamento odontológico: intervenção psicofarmacológica

The present investigation evaluated the effects of diazepam used to manage uncooperative behavior of child dental patients. Six participants received placebo or diazepam (0,3 mg/kg weight) before formal dental treatment at total 54 sessions that were all recorded in videotapes. The analysis of recorded child (crying, body and/or head movements, escape and avoidance) and dentist's behavior management procedures (distraction, explanation, positive reinforcement) indicates no differences by using a double-blind Wilcoxon design (p>0.05). It is suggested the necessity of methodological refinement in studies that combine psychological and pharmacological handling strategies.

Efeito de 13 semanas de treinamento físico militar sobre a composição corporal e o desempenho físico dos alunos da escola preparatória de cadetes do exército

INTRODUCTION: Armies from all over the world acknowledge the importance of good physical fitness for the performance of military duties. The Military Exercise Training (MET) attempts to provide assistance to this search for better physical fitness and performance. OBJECTIVE: To verifying the effect on the body composition and physical performance of the students at ESPCEX (Military School for Preparation of Army Cadets) after 13 weeks of MET. METHODS: The sample was formed by 287 male students from the ESPCEX, whose average age was 18.33 ±1.26. Such students accomplished a boarding school routine, having defined schedules, meals and activities from which they were only released during the weekends. The MET was accomplished five days a week and it comprised both aerobic and resistance training. Measurement of body mass, height, skinfold (triceps, abdominal and suprailiac) was accomplished during pre and post training periods, and the following tests were performed: 12-minutes-run, oblique sit up, arm push up and pull up. Fat percentage, fat-free body mass and fat body mass were calculated using the anthropometric data based on the Guedes 3 skinfold protocol. RESULTS: Significant reduction in fat body mass, fat percentage and in triceptal and abdominal skinfold, as well as increase in suprailiac skinfold and fat-free body mass was observed when anthropometric and body composition data were compared, during the initial and the final periods of training. Significant improvement also occurred in all prformed physical tests, in which better performance was achieved. CONCLUSION: The acquired data suggest that performance of MET 5 days a week brought significantly improved body composition as well as physical performance

Nossa notação m' na prova de Rorschach: ampliação e restrição do fator m de Klopfer

Klopfer's differentiation of movement scores, among which inanimate movement integrating the minor movements group, was no doubt opportune and needed. Their peculiar meaning has been clearly stressed and enriched by Piotrowski in his reformulation of Rorschach variables. It is our belief that Rorschach himself would take such step. Our criteria for scoring this determinant are somewhat different of both Klopfer's and Piotrowski's. On the one hand, masks, facial traits, emotional expressions, body parts in motion are not entered there. On the other, we score as such human or animal movement, provided this does not originate in the blot shape directly, but in the subjective reaction against the sensed muscular tension. Basic requirement for this scoring is the kinesthetic component, as for Mever since Rorschach's elaboration; and common trait distinctive for any response to be so scored ? be it an abstraction, an inanimate object, an animal or human being ? must be the subjective way of feeling the movement: (a) intention, blocking, struggle for achieving, for instance, or (b) activity of nature elements. Due to this subjective meaning we use the symbol m'intead of mfor this category. We already find these two kinds (a) and (b) of movement responses in Rorschach's text, respectively in the Examplesand in his posthumous Contribution.Either may point to a flight from emotional stress or to outstanding mental ability.

Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

A case of neuronal ceroid-lipofuscinosis (NCL) is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a) severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b) slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

Treinamento concorrente : efeito sobre marcadores inflamatórios sistêmicos e indicadores funcionais em homens de meia idade

Universidade Estadual de Campinas . Faculdade de Educação Física

Crescimento fisico em crianças e adolescentes de moderada altitude

Universidade Estadual de Campinas . Faculdade de Educação Física

Variabilidade dos indicadores antropométricos e de desempenho físico de jovens futebolistas em função da idade cronológica

Universidade Estadual de Campinas . Faculdade de Educação Física

Cultura de movimento e identidade : a Educação Fisica na contemporaneidade

Universidade Estadual de Campinas . Faculdade de Educação Física